ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829959839
Gene: CHAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128726
ClinVar RCV Id:
RCV000116699
RCV000552676
RCV000676664
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066264.4:p.Leu125Phe
CA152358
NM_020984.4:c.373C>T